Audiological profile in laurence moon biedl syndrome: a case study

Abstract

Background: Laurence-Moon Biedl syndrome is an autosomal recessive genetic disorder characterized by hearing impairment, mental retardation, obesity, retinitis pigmentosa, extra digits on the hands and feet. There is scarce of research studies highlighting the audiological findings in Laurence-Moon Biedl (LMB) syndrome based on subjective test i.e. Puretone audiometry but objective test result findings were not explained. Aim: The aim of current study was to obtain audiological profile in Laurence-Moon Biedal syndrome. Study Design: Single subject design was used to fulfill the aim of the present study. Materials and Methods: Otoscopic examination, Puretone audiometry, immittance audiometry, oto-acoustic emission and auditory brainstem response tests were used for audiological evaluation. Result: Audiological outcome shows bilateral mild hearing loss in Laurence-Moon Biedl syndrome. Conclusion: To conclude, this case study provides information regarding need of awareness of this relevant information and take immediate steps to pediatrician, otologist, audiologist and clinical geneticist to provide services to patients. Furthermore, this case study draws the attention of health care professionals involved in the management of patients with Laurence-Moon Biedl syndrome towards the importance of audiological evaluation.